Segmental stiff skin syndrome (SSS): A distinct clinical entity

Background Stiff skin syndrome (SSS) is a noninflammatory, fibrosing condition of the skin, often affecting the limb girdles. Objective We present 4 new patients with SSS with largely unilateral, segmental distribution. To date, reported cases of SSS have been grouped based on generally accepted cli...

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Bibliographic Details
Published in:Journal of the American Academy of Dermatology 2016-07, Vol.75 (1), p.163-168
Main Authors: Myers, Kathryn L., MD, Mir, Adnan, MD, PhD, Schaffer, Julie V., MD, Meehan, Shane A., MD, Orlow, Seth J., MD, PhD, Brinster, Nooshin K., MD
Format: Article
Language:English
Subjects:
adipocyte entrapment
Adolescent
Age Factors
Age of Onset
Child
Child, Preschool
congenital fascial dystrophy
Contracture - diagnosis
Contracture - pathology
Contracture - physiopathology
Dermatology
Female
fibrillin-1
fibrosis
Humans
Infant
Male
Range of Motion, Articular
Retrospective Studies
segmental stiff skin syndrome
Skin Diseases, Genetic - diagnosis
Skin Diseases, Genetic - pathology
Skin Diseases, Genetic - physiopathology
stiff skin syndrome
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Summary:Background Stiff skin syndrome (SSS) is a noninflammatory, fibrosing condition of the skin, often affecting the limb girdles. Objective We present 4 new patients with SSS with largely unilateral, segmental distribution. To date, reported cases of SSS have been grouped based on generally accepted clinical and histopathologic findings. The purpose of this study was to analyze differences in clinical and histopathologic findings between previously reported SSS cases. Methods This is a retrospective review of 4 new cases and 48 previously published cases of SSS obtained from PubMed search. Results Of 52 total cases, 18 (35%) were segmentally distributed and 34 (65%) were widespread. The average age of onset was 4.1 years versus 1.6 years for segmental versus widespread SSS, respectively. Limitation in joint mobility affected 44% of patients with segmental SSS and 97% of patients with widespread SSS. Histopathologic findings were common between the 2 groups. Limitations This was a retrospective study of previously published cases limited by the completeness and accuracy of the reviewed cases. Conclusions We propose a distinct clinical entity, segmental SSS, characterized by a segmental distribution, later age of onset, and less severe functional limitation. Both segmental SSS and widespread SSS share common diagnostic histopathologic features.
ISSN:0190-9622
1097-6787
DOI:10.1016/j.jaad.2016.01.038